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rs772624348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs772624348(C;T)
Make rs772624348(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position73572357
GeneALMS1
is asnp
is mentioned by
dbSNPrs772624348
dbSNP (classic)rs772624348
ClinGenrs772624348
ebirs772624348
HLIrs772624348
Exacrs772624348
Gnomadrs772624348
Varsomers772624348
LitVarrs772624348
Maprs772624348
PheGenIrs772624348
Biobankrs772624348
1000 genomesrs772624348
hgdprs772624348
ensemblrs772624348
geneviewrs772624348
scholarrs772624348
googlers772624348
pharmgkbrs772624348
gwascentralrs772624348
openSNPrs772624348
23andMers772624348
SNPshotrs772624348
SNPdbers772624348
MSV3drs772624348
GWAS Ctlgrs772624348
Max Magnitude0
ClinVar
Risk rs772624348(G;G) rs772624348(T;T)
Alt rs772624348(G;G) rs772624348(T;T)
Reference Rs772624348(C;C)
Significance Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73799484C>T
CLNSRC
CLNACC RCV000192879.1,